EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
    2.3.1.37 | Anemia |
8107717 |
X-linked pyridoxine-responsive sideroblastic anemia due to a Thr388-to-Ser substitution in erythroid 5-aminolevulinate synthase. |
causal interaction
ongoing research
therapeutic application
unassigned |
4
2
1
0 |
| 2.3.1.37 | Anemia |
8154933 |
Abnormal haem biosynthesis in the chronic anaemia of rheumatoid arthritis. |
causal interaction
unassigned |
1
0 |
| 2.3.1.37 | Anemia |
9226183 |
Pyridoxine refractory X-linked sideroblastic anemia caused by a point mutation in the erythroid 5-aminolevulinate synthase gene. |
causal interaction
ongoing research
unassigned |
4
1
0 |
| 2.3.1.37 | Anemia |
9372069 |
The molecular basis of the sideroblastic anemias. |
causal interaction
unassigned |
3
0 |
| 2.3.1.37 | Anemia |
15565468 |
Gene symbol: ALAS2. Disease: sideroblastic anaemia. |
ongoing research
therapeutic application
unassigned |
2
1
0 |
| 2.3.1.37 | Anemia |
15678585 |
Gene symbol: ALAS2. Disease: sideroblastic anaemia. |
ongoing research
therapeutic application
unassigned |
2
1
0 |
| 2.3.1.37 | Anemia |
15678586 |
Gene symbol: ALAS2. Disease: sideroblastic anaemia. |
ongoing research
therapeutic application
unassigned |
2
1
0 |
| 2.3.1.37 | Anemia |
15678587 |
Gene symbol: ALAS2. Disease: sideroblastic anaemia. |
ongoing research
therapeutic application
unassigned |
2
1
0 |
| 2.3.1.37 | Anemia |
15885606 |
Iron overload in an African American woman with SS hemoglobinopathy and a promoter mutation in the X-linked erythroid-specific 5-aminolevulinate synthase (ALAS2) gene. |
causal interaction
diagnostic usage
unassigned |
4
1
0 |
| 2.3.1.37 | Anemia |
16446107 |
Three kinships with ALAS2 P520L (c. 1559 C --> T) mutation, two in association with severe iron overload, and one with sideroblastic anemia and severe iron overload. |
causal interaction
diagnostic usage
ongoing research
unassigned |
3
2
3
0 |
